AiPD: Autoinhibited Protein Database

Q9Y2J2

Gene name	EPB41L3
Protein name	Band 4.1-like protein 3
Names	4.1B, Differentially expressed in adenocarcinoma of the lung protein 1, DAL-1, Erythrocyte membrane protein band 4.1-like 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23136
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-129 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-129 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

55 structures for Q9Y2J2

Entry ID	Method	Resolution	Chain	Position	Source
2HE7	X-ray	200 A	A	108-390	PDB
3BIN	X-ray	230 A	A	109-390	PDB
5RYM	X-ray	164 A	A	107-390	PDB
5RYN	X-ray	188 A	A	107-390	PDB
5RYO	X-ray	158 A	A	107-390	PDB
5RYP	X-ray	163 A	A	107-390	PDB
5RYQ	X-ray	164 A	A	107-390	PDB
5RYR	X-ray	187 A	A	107-390	PDB
5RYS	X-ray	175 A	A	107-390	PDB
5RYT	X-ray	172 A	A	107-390	PDB
5RYU	X-ray	163 A	A	107-390	PDB
5RYV	X-ray	169 A	A	107-390	PDB
5RYW	X-ray	166 A	A	107-390	PDB
5RYX	X-ray	163 A	A	107-390	PDB
5RYY	X-ray	169 A	A	107-390	PDB
5RYZ	X-ray	161 A	A	107-390	PDB
5RZ0	X-ray	174 A	A	107-390	PDB
5RZ1	X-ray	162 A	A	107-390	PDB
5RZ2	X-ray	177 A	A	107-390	PDB
5RZ3	X-ray	174 A	A	107-390	PDB
5RZ4	X-ray	161 A	A	107-390	PDB
5RZ5	X-ray	163 A	A	107-390	PDB
5RZ6	X-ray	164 A	A	107-390	PDB
5RZ7	X-ray	176 A	A	107-390	PDB
5RZ8	X-ray	166 A	A	107-390	PDB
5RZ9	X-ray	179 A	A	107-390	PDB
5RZA	X-ray	189 A	A	107-390	PDB
5RZB	X-ray	159 A	A	107-390	PDB
5RZC	X-ray	175 A	A	107-390	PDB
5RZD	X-ray	181 A	A	107-390	PDB
5RZE	X-ray	169 A	A	107-390	PDB
5RZF	X-ray	176 A	A	107-390	PDB
5RZG	X-ray	170 A	A	107-390	PDB
5RZH	X-ray	188 A	A	107-390	PDB
5RZI	X-ray	209 A	A	107-390	PDB
5RZJ	X-ray	168 A	A	107-390	PDB
5RZK	X-ray	184 A	A	107-390	PDB
5RZL	X-ray	171 A	A	107-390	PDB
5RZM	X-ray	171 A	A	107-390	PDB
5RZN	X-ray	183 A	A	107-390	PDB
5RZO	X-ray	197 A	A	107-390	PDB
5RZP	X-ray	170 A	A	107-390	PDB
5RZQ	X-ray	188 A	A	107-390	PDB
5RZR	X-ray	178 A	A	107-390	PDB
5RZS	X-ray	169 A	A	107-390	PDB
5RZT	X-ray	179 A	A	107-390	PDB
5RZU	X-ray	166 A	A	107-390	PDB
5RZV	X-ray	175 A	A	107-390	PDB
5RZW	X-ray	162 A	A	107-390	PDB
5RZX	X-ray	174 A	A	107-390	PDB
5RZY	X-ray	175 A	A	107-390	PDB
5RZZ	X-ray	176 A	A	107-390	PDB
5S00	X-ray	177 A	A	107-390	PDB
6IBE	X-ray	145 A	A	107-390	PDB
AF-Q9Y2J2-F1	Predicted				AlphaFoldDB

929 variants for Q9Y2J2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1444108809 CA402012150	2	T>R		No	ClinGen Ensembl
CA402012129 rs1430254072	5	S>F		No	ClinGen gnomAD
CA402012132 rs1172922066	5	S>P		No	ClinGen gnomAD
CA402012098 rs1428045848	10	E>G		No	ClinGen TOPMed gnomAD
CA402012097 rs1428045848	10	E>V		No	ClinGen TOPMed gnomAD
rs756185800 CA8878234	13	P>A		No	ClinGen ExAC gnomAD
CA402012077 rs1183883231	13	P>L		No	ClinGen gnomAD
CA402012075 rs1568401438	14	D>H		No	ClinGen Ensembl
CA296202199 rs575037905	15	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	16	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750617383 CA8878232	18	E>K		No	ClinGen ExAC gnomAD
rs370004609 CA8878231	21	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1009731371 CA402012014	22	A>G		No	ClinGen TOPMed gnomAD
rs1009731371 COSM296476 CA296202198	22	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8878230 rs762053703	23	A>V		No	ClinGen ExAC gnomAD
rs762937199 CA402012003	24	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8878227 rs762937199	24	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1599673799 CA402012007	24	G>R		No	ClinGen Ensembl
CA402012002 rs376398436	25	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8878226 rs376398436	25	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA402011998 rs1357547181	25	A>V		No	ClinGen TOPMed gnomAD
rs924628605 CA402011986	27	G>E		No	ClinGen TOPMed gnomAD
CA402011989 rs1372304112	27	G>R		No	ClinGen TOPMed gnomAD
rs924628605 CA296202197	27	G>V		No	ClinGen TOPMed gnomAD
CA402011987 rs1372304112	27	G>W		No	ClinGen TOPMed gnomAD
rs745419936 CA8878224	28	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	28	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402011976 rs776307591	29	A>E		No	ClinGen ExAC TOPMed gnomAD
CA402011977 rs1469881115	29	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8878223 rs776307591	29	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770671688 CA8878222	30	G>E		No	ClinGen ExAC TOPMed gnomAD
rs779282144 CA402011969	31	A>P		No	ClinGen ExAC gnomAD
rs779282144 CA8878220	31	A>T		No	ClinGen ExAC gnomAD
rs1568400239 CA402011965	31	A>V		No	ClinGen Ensembl
rs926296934 CA296202194	32	P>H		No	ClinGen TOPMed
CA8878216 rs749768790	33	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1397759498 CA402011959	33	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA402011949 rs1265457248	34	P>L		No	ClinGen gnomAD
rs1265457248 CA402011950	34	P>R		No	ClinGen gnomAD
rs1044974996 CA296202192	35	E>G		No	ClinGen TOPMed
CA8878214 rs61735458 RCV000889800	36	P>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8878213 rs750462293	37	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1352173198 CA402011932	37	P>L		No	ClinGen gnomAD
CA8878210 rs576839943	38	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767588326 CA8878211	38	K>R		No	ClinGen ExAC TOPMed gnomAD
CA402011925 rs1214375007	39	E>K		No	ClinGen TOPMed
TCGA novel	40	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459966391 CA402011908	41	Q>E		No	ClinGen gnomAD
CA402011906 rs1417392982	41	Q>P		No	ClinGen gnomAD
rs762698133 CA8878207	42	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA8878208 rs762698133	42	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1362481923 CA402011885	44	A>T		No	ClinGen gnomAD
rs759581292 CA8878204	46	E>D		No	ClinGen ExAC gnomAD
rs1466780870 CA402011849	49	A>G		No	ClinGen gnomAD
CA402011852 rs1599671520	49	A>P		No	ClinGen Ensembl
CA402011847 rs1272141262	50	A>T		No	ClinGen gnomAD
rs760393116 CA8878201	51	A>G		No	ClinGen ExAC gnomAD
CA402011839 rs1352407489	51	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1005815192 CA296202189	53	A>P		No	ClinGen Ensembl
CA8878200 rs376734530 COSM1251247	53	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA296202188 rs747581604	54	H>Q		No	ClinGen TOPMed gnomAD
rs1303384861 CA402011816	55	S>I		No	ClinGen gnomAD
rs1438769433 CA402011806	56	T>I		No	ClinGen gnomAD
CA402011807 rs1438769433	56	T>S		No	ClinGen gnomAD
rs769039231 CA8878199	57	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402011802 rs769039231	57	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1321456215 CA402011803	57	P>S		No	ClinGen gnomAD
rs150166347 CA8878196	59	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM2151846 CA8878197 COSM3403578 rs780498839	59	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1452015656 CA402011784	61	E>K		No	ClinGen gnomAD
CA8878173 rs758487101	63	T>I		No	ClinGen ExAC TOPMed gnomAD
CA402011747 rs1269812783	64	D>G		No	ClinGen gnomAD
TCGA novel	65	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	66	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	67	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402011714 rs1311396113	68	E>G		No	ClinGen gnomAD
TCGA novel	70	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296200955 rs1005045804	72	R>G		No	ClinGen gnomAD
rs778840438 CA8878171	74	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754890475 CA8878170	75	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1230011388 CA402011653	77	L>P		No	ClinGen TOPMed gnomAD
rs1230011388 CA402011654	77	L>R		No	ClinGen TOPMed gnomAD
rs1197421046 CA402011651	78	E>K		No	ClinGen TOPMed
CA402011638 rs1166823871	79	Y>*		No	ClinGen TOPMed gnomAD
CA402011634 rs1283679414	80	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1435829804 CA402011624	81	Q>R		No	ClinGen TOPMed gnomAD
CA296200953 rs867719226	84	D>H		No	ClinGen TOPMed gnomAD
CA296200952 rs867719226	84	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	87	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749836610 CA8878166	88	S>F		No	ClinGen ExAC gnomAD
CA8878167 rs370452607	88	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8878165 rs746460874	89	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA296200950 rs905547822	92	S>C		No	ClinGen Ensembl
rs1272292130 CA402011551	92	S>P		No	ClinGen TOPMed gnomAD
rs1350890804 CA402011546	93	S>G		No	ClinGen TOPMed gnomAD
CA296200949 rs779581614	95	K>R		No	ClinGen Ensembl
CA402011522 rs1233026087	96	L>F		No	ClinGen gnomAD
rs777002757 CA8878160	97	S>A		No	ClinGen ExAC gnomAD
rs142277051 CA402011510	98	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8878159 rs142277051	98	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372444341 CA402011502	100	P>A		No	ClinGen Ensembl
rs1568352698 CA402011493	101	L>S		No	ClinGen Ensembl
CA296200947 TCGA novel rs757891782	102	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1327558627 CA402011478	103	I>T		No	ClinGen gnomAD
CA296200946 rs750074788	106	K>N		No	ClinGen TOPMed gnomAD
TCGA novel rs772255360 CA8878157	107	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs772255360 CA8878156	107	P>S		No	ClinGen ExAC TOPMed gnomAD
rs117900256 CA8878155	109	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402011440 rs117900256	109	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8878154 rs755269960	109	S>R		No	ClinGen ExAC gnomAD
CA8878152 rs749048325	111	Q>K		No	ClinGen ExAC gnomAD
CA296200944 rs113126204	115	I>M		No	ClinGen Ensembl
rs779996389 CA8878151	116	L>I		No	ClinGen ExAC gnomAD
TCGA novel	117	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469911854 CA402011382	118	D>N		No	ClinGen TOPMed gnomAD
rs1469911854 CA402011380	118	D>Y		No	ClinGen TOPMed gnomAD
rs746452001 CA296200943	119	G>A		No	ClinGen TOPMed gnomAD
rs746452001 CA402011371	119	G>E		No	ClinGen TOPMed gnomAD
rs1213371473 CA402011374	119	G>R		No	ClinGen gnomAD
TCGA novel	120	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402011357 rs1568352005	121	E>D		No	ClinGen Ensembl
rs757631686 CA8878148	121	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	122	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751193433 CA8878146	126	V>A		No	ClinGen ExAC gnomAD
rs372730881 CA8878126 COSM74522	129	R>C	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8878125 rs752408777	129	R>H		No	ClinGen ExAC gnomAD
CA401828009 rs752408777	129	R>L		No	ClinGen ExAC gnomAD
rs372730881 CA8878127	129	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	130	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8878123 rs761144764	134	V>M		No	ClinGen ExAC gnomAD
TCGA novel	137	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8878122 rs750772806	138	K>E		No	ClinGen ExAC gnomAD
TCGA novel	138	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8878121 rs768025586	139	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1196200227 CA401827939	140	C>Y		No	ClinGen TOPMed
rs1485672079 CA401827934	141	E>Q		No	ClinGen gnomAD
CA401827915 rs1238342368	143	L>S		No	ClinGen gnomAD
TCGA novel	146	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416891612 CA401827883	148	K>E		No	ClinGen TOPMed
CA401827848 rs1349843200	152	G>E		No	ClinGen TOPMed gnomAD
CA295716241 rs1040973290	153	L>F		No	ClinGen Ensembl
CA8878119 rs201907753	154	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8878117 rs763263654	155	Y>F		No	ClinGen ExAC gnomAD
CA401827825 rs141362076	156	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141362076 CA8878116	156	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3742647 rs1380114884 COSM3742648 CA401827821	157	D>G	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs769452515 CA8878115	157	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	160	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401827791 rs1050518242 COSM1710946	161	Q>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1050518242 CA295716217	161	Q>R		No	ClinGen TOPMed gnomAD
CA401827748 rs1391830450	165	L>W		No	ClinGen gnomAD
rs754616014 CA8878104	167	P>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	169	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401827723 rs1599005317	169	K>T		No	ClinGen Ensembl
rs1418806113 CA401827717	170	E>K		No	ClinGen gnomAD
rs750729750 CA8878103	171	I>M		No	ClinGen ExAC gnomAD
CA401827693 rs1568201977	173	K>T		No	ClinGen Ensembl
rs1474424767	174	Q>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8878102 rs549933763	175	V>I		No	ClinGen ExAC gnomAD
rs762396487 CA8878101	176	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8878081 rs757736010	180	W>*		No	ClinGen ExAC gnomAD
CA8878080 rs752088439	180	W>C		No	ClinGen ExAC gnomAD
CA295711339 rs1035835056	181	H>Q		No	ClinGen Ensembl
CA401827106 rs1288762698	181	H>Y		No	ClinGen gnomAD
CA401827053 rs1205467303	183	S>P		No	ClinGen gnomAD
rs1352651381 CA401827037	184	F>L		No	ClinGen gnomAD
rs369470003 CA8878079	185	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759007542 CA8878078	186	V>L		No	ClinGen ExAC gnomAD
rs1371649798 CA401826898	192	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	193	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305675835 CA401826893	193	P>T		No	ClinGen gnomAD
rs752757777 CA8878077	194	A>D		No	ClinGen ExAC gnomAD
TCGA novel	198	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8878075 rs759791744	200	I>V		No	ClinGen ExAC gnomAD
rs375147810 CA295708712	203	Y>D		No	ClinGen ESP TOPMed
CA401826365 rs1208716450	204	Y>C		No	ClinGen TOPMed gnomAD
rs767353558 CA8878053	206	C>Y		No	ClinGen ExAC gnomAD
CA401826304 rs1201891671	208	Q>R		No	ClinGen TOPMed
CA401826291 rs368600153	209	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM274981 rs1268000108 COSM4140117 CA401826276	210	R>*	ovary large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8878050 rs768190757	210	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401826264 rs1234278432	211	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1478683218 CA401826220	213	I>V		No	ClinGen TOPMed
rs775170222 CA8878048	214	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	215	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401826168 COSM1165618 rs778271797 CA8878045	216	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
CA295708675 rs958078164	221	S>C		No	ClinGen TOPMed
rs1050524340 CA295708658	222	F>V		No	ClinGen Ensembl
TCGA novel	226	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393833549 CA401825998	226	A>V		No	ClinGen gnomAD
CA8878041 rs755535084	231	Y>C		No	ClinGen ExAC gnomAD
CA401825911 rs181887485	232	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8878040 rs181887485	232	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1338414605 CA401825902	233	V>A		No	ClinGen TOPMed
TCGA novel	233	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295708613 rs201054385	234	Q>H		No	ClinGen Ensembl
CA8878038 rs756311216	234	Q>R		No	ClinGen ExAC gnomAD
rs768186514 CA295708606	236	E>Q		No	ClinGen Ensembl
CA295708598 COSM122856 rs960237079	238	G>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs368191543 CA8878036	239	D>E		No	ClinGen ESP ExAC gnomAD
rs1214488356 CA401825790	240	Y>S		No	ClinGen gnomAD
rs751392387 CA8878034	242	P>A		No	ClinGen ExAC gnomAD
CA8878033 rs763897171	243	D>E		No	ClinGen ExAC gnomAD
TCGA novel	243	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555678921 CA401825717	245	C>Y		No	ClinGen Ensembl
rs775082494 COSM989086 CA8878031	248	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA401825643 rs1374097412	250	I>V		No	ClinGen gnomAD
CA8878029 rs759259984	251	S>G		No	ClinGen ExAC gnomAD
rs1396248219 CA401825626	251	S>N		No	ClinGen gnomAD
CA401825608 rs1162401550	252	E>D		No	ClinGen gnomAD
CA8878028 rs374307563	254	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA295708556 rs1022415466	254	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401825554 rs1468545754	257	P>R		No	ClinGen gnomAD
rs1011007395 CA295708547	259	H>R		No	ClinGen gnomAD
CA401825510 rs1194372589	260	T>A		No	ClinGen gnomAD
rs748416389 CA8878026	260	T>I		No	ClinGen ExAC gnomAD
rs564256996 CA8878025	261	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA401825433 rs1317968511	265	D>G		No	ClinGen gnomAD
TCGA novel	267	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200272088 CA8878023	268	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8878021 rs750621088 COSM989083	269	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750621088 CA8878020	269	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1353628903 CA401825328	272	K>E		No	ClinGen gnomAD
CA401825301 rs1307851685	273	S>R		No	ClinGen gnomAD
CA401825281 rs1363695306	275	R>*		No	ClinGen TOPMed
TCGA novel	275	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436647162 CA401825225	276	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376210046 COSM266465 CA8878000	278	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs886227861 CA295708262	279	P>A		No	ClinGen Ensembl
CA295708256 rs1056947311	282	A>G		No	ClinGen gnomAD
CA8877996 rs376224922	284	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877997 rs376224922	284	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	285	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249621070 CA401825125	285	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401825116 rs1442925401	286	F>V		No	ClinGen gnomAD
CA8877995 rs570437639	290	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401825062 rs1258430049	290	A>V		No	ClinGen TOPMed gnomAD
rs1568150789 CA401825061	291	K>Q		No	ClinGen Ensembl
TCGA novel	292	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877994 rs755001818	292	K>R		No	ClinGen ExAC gnomAD
rs1484979313	293	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	293	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549147515 CA8877993	295	M>V		No	ClinGen ExAC gnomAD
rs945752024 CA295708213	296	Y>C		No	ClinGen TOPMed
TCGA novel	296	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598873362 CA401824984	298	V>I		No	ClinGen Ensembl
TCGA novel	299	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216565317 CA401824944	301	H>R		No	ClinGen gnomAD
rs529409638 CA8877989	302	H>Q		No	ClinGen ExAC gnomAD
CA401824809 rs944467652	305	D>E		No	ClinGen gnomAD
CA401824790 rs1376232779	308	G>E		No	ClinGen TOPMed
rs754909102 CA8877976	308	G>R		No	ClinGen ExAC gnomAD
rs1414421554 CA401824766	312	M>V		No	ClinGen TOPMed
TCGA novel	313	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234933383 CA401824748	314	G>E		No	ClinGen gnomAD
CA401824740 rs1311104135	315	V>G		No	ClinGen TOPMed
CA8877975 rs753876871	316	C>R		No	ClinGen ExAC gnomAD
rs1392021881 CA401824680 COSM1177060	324	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA295704346 rs965134652	325	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA295704345 rs1050259718	326	R>G		No	ClinGen TOPMed gnomAD
rs1237615415 COSM989077 CA401824670	326	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1050259718 COSM2154820 COSM3403572 CA401824672	326	R>W	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA295704344 rs867881127	328	R>L		No	ClinGen Ensembl
rs1395521426 CA401824653	329	I>M		No	ClinGen gnomAD
CA401824636 rs1348102263	332	F>L		No	ClinGen TOPMed
rs931882561 CA295704343	333	A>G		No	ClinGen Ensembl
CA295704338 rs920541028	335	P>L		No	ClinGen Ensembl
rs767116095 CA401824601	337	V>F		No	ClinGen ExAC gnomAD
rs767116095 CA8877971	337	V>I		No	ClinGen ExAC gnomAD
TCGA novel	342	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877969 rs775774159	342	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1239403270 CA401824561	343	K>R		No	ClinGen gnomAD
CA401824554 rs1568125288	344	R>Q		No	ClinGen Ensembl
rs1438985752 CA401824555	344	R>W		No	ClinGen TOPMed
rs1457005567 CA401824550	345	N>D		No	ClinGen gnomAD
rs765649112 CA8877968	345	N>S		No	ClinGen ExAC gnomAD
rs777237089 CA8877966	346	N>K		No	ClinGen ExAC gnomAD
CA401824517 rs1239593020	349	I>S		No	ClinGen gnomAD
CA401824500 rs1318689691	351	I>M		No	ClinGen gnomAD
rs377615645 CA401824497	352	R>L		No	ClinGen ESP ExAC gnomAD
rs377615645 CA8877963	352	R>Q		No	ClinGen ESP ExAC gnomAD
rs763472908 CA8877964	352	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1396035478 CA401824489	354	G>R		No	ClinGen TOPMed
TCGA novel	355	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	355	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374596275 CA8877934	356	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	361	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224793974 CA401823982	362	T>I		No	ClinGen TOPMed
rs1598760528 CA401823990	362	T>P		No	ClinGen Ensembl
rs1026803726 CA295701754	368	P>T		No	ClinGen Ensembl
CA401823892 rs961216947	371	R>*		No	ClinGen gnomAD
rs1024857735 CA295701735	372	A>V		No	ClinGen Ensembl
CA401823873 rs1401046522	373	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1598760145 CA401823867	374	K>E		No	ClinGen Ensembl
CA295701724 rs935184617	375	R>C		No	ClinGen TOPMed gnomAD
CA8877930 rs758020564 COSM1756971 COSM3932841	375	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA401823854 rs935184617	375	R>S		No	ClinGen TOPMed gnomAD
CA8877928 rs535868224	379	V>E		No	ClinGen 1000Genomes ExAC gnomAD
COSM989070 CA295701701 rs895808154	382	E>G	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1568104686 CA401823729	386	F>Y		No	ClinGen Ensembl
TCGA novel	387	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877910 rs777272293	390	L>M		No	ClinGen ExAC gnomAD
CA8877909 rs758014675	392	P>A		No	ClinGen ExAC gnomAD
rs1200063591 CA401823603	394	A>T		No	ClinGen TOPMed gnomAD
CA401823592 rs1323940276	394	A>V		No	ClinGen gnomAD
rs780466257 CA8877907	396	P>S		No	ClinGen ExAC gnomAD
rs756480325 CA8877906	401	T>I		No	ClinGen ExAC gnomAD
CA401823418 rs1374164318	407	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757841955 CA8877903	407	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1436919640 CA401823402	408	Y>F		No	ClinGen gnomAD
rs1351331864 CA401823352	410	G>V		No	ClinGen gnomAD
CA401823322 COSM709319 rs1421924875	411	R>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8877901 rs764136707	412	T>A		No	ClinGen ExAC gnomAD
rs775613980 CA8877899	414	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8877898 rs765059108	414	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401823249 rs1194440034	416	T>A		No	ClinGen TOPMed gnomAD
CA8877896 rs776444381	416	T>M		No	ClinGen ExAC gnomAD
CA401823247 rs1194440034	416	T>S		No	ClinGen TOPMed gnomAD
CA8877893 rs772769794	420	S>G		No	ClinGen ExAC gnomAD
CA295701291 rs754674772	421	A>V		No	ClinGen gnomAD
rs1241680830 CA401823107	422	L>V		No	ClinGen gnomAD
COSM1251248 CA401822983 rs1350949619	425	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs778377203 CA8877890	429	Y>F		No	ClinGen ExAC gnomAD
rs1225912222 CA401822863	431	E>A		No	ClinGen TOPMed
rs1291547093 CA401822845	432	R>H		No	ClinGen gnomAD
TCGA novel	433	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289524354 CA401822821	433	S>P		No	ClinGen TOPMed
CA8877889 rs201007636	436	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300022203 CA401822720	437	R>C		No	ClinGen gnomAD
CA8877887 rs781699049	437	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1176922439 CA401822643	440	M>V		No	ClinGen gnomAD
CA8877886 rs757823896	442	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM989068 CA295701222 rs201730957	442	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs201730957 CA8877885	442	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1332659760 CA401822498	445	D>A		No	ClinGen gnomAD
CA8877883 rs758456549	446	G>E		No	ClinGen ExAC TOPMed gnomAD
rs11661706	447	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877860 rs755182888	448	V>I		No	ClinGen ExAC gnomAD
TCGA novel	449	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877859 rs754128977	449	G>V		No	ClinGen ExAC TOPMed gnomAD
CA401820826 rs1397848074	450	T>N		No	ClinGen gnomAD
TCGA novel	452	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598711449 CA401820794	453	Y>D		No	ClinGen Ensembl
CA8877857 rs145954134	454	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	455	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877855 rs767287627	457	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401820725 rs761821278	458	G>D		No	ClinGen ExAC TOPMed gnomAD
CA401820731 rs1598711123	458	G>S		No	ClinGen Ensembl
rs761821278 CA8877854	458	G>V		No	ClinGen ExAC TOPMed gnomAD
CA401820708 rs1483673303	459	I>M		No	ClinGen gnomAD
CA401820672 rs1568081438	462	T>S		No	ClinGen Ensembl
CA401820666 rs1254527681	463	N>H		No	ClinGen gnomAD
rs1253412424 CA401820638	464	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	465	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762690750 CA8877851	467	T>P		No	ClinGen ExAC TOPMed gnomAD
rs769584275 CA8877849	470	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401820532 rs1262974872	472	K>N		No	ClinGen TOPMed
CA8877847 rs747269632	472	K>R		No	ClinGen ExAC gnomAD
rs146356489 CA8877846	473	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	475	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772407788 CA401820474	476	E>D		No	ClinGen ExAC TOPMed gnomAD
rs776994193 CA8877843	478	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748736095 CA8877844	478	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs550620428 CA8877842	479	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs944527203 CA295695626	480	E>D		No	ClinGen Ensembl
CA8877840 rs780187679	480	E>K	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1379386905 CA401820414	481	E>G		No	ClinGen gnomAD
CA401820405 rs1410237213	482	E>Q		No	ClinGen TOPMed
CA295695616 rs1045892067	483	D>E		No	ClinGen gnomAD
CA401820376 rs1391822000	484	K>E		No	ClinGen gnomAD
rs767397189 CA8877837	485	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8877838 rs767397189	485	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM564257 rs188980250 CA295695613	485	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA8877836 rs757113359	486	R>S		No	ClinGen ExAC gnomAD
rs375665706 CA8877835	488	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA8877832 rs775143739	490	E>K		No	ClinGen ExAC gnomAD
rs1436870485 CA401820260	491	V>L		No	ClinGen TOPMed gnomAD
CA8877829 rs142122200	492	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1680198 CA8877830 rs142122200	492	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8877831 rs142122200	492	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877826 rs545415448	494	I>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM709321 rs769159490 CA8877825	495	S>L	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs930221423 CA295695583	496	A>T		No	ClinGen TOPMed gnomAD
CA295695571 rs1054285651	497	I>M		No	ClinGen TOPMed
CA401820194 rs1239643913	497	I>N		No	ClinGen TOPMed gnomAD
rs1239643913 CA401820192	497	I>T		No	ClinGen TOPMed gnomAD
rs117538203 CA401820178	498	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4131019 RCV000963958 COSM4131018 CA8877822 rs117538203	498	R>Q	thyroid [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1734877 CA8877823 rs200213263	498	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs780846021 CA8877820	499	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8877818 rs751325467	500	E>A		No	ClinGen ExAC gnomAD
CA8877819 rs757135327	500	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775911998 CA8877816	501	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8877817 rs764056090	501	G>R		No	ClinGen ExAC gnomAD
rs775911998 CA401820144	501	G>V		No	ClinGen ExAC gnomAD
rs753296952 CA401819193	503	S>P		No	ClinGen ExAC TOPMed gnomAD
CA8877788 rs753296952	503	S>T		No	ClinGen ExAC TOPMed gnomAD
rs766019164 CA8877787	506	L>F		No	ClinGen ExAC gnomAD
rs760271032 CA8877786	509	D>N		No	ClinGen ExAC gnomAD
CA8877785 rs564665638	510	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA401819137 rs1316585939	512	P>S		No	ClinGen gnomAD
rs1270200800 CA401819127	513	L>F		No	ClinGen gnomAD
rs770217031 CA8877781	515	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770217031 CA8877782	515	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1568062116 CA401819115	516	P>A		No	ClinGen Ensembl
CA8877778 rs771135161	517	S>F		No	ClinGen ExAC TOPMed gnomAD
rs374487187 CA8877777	518	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877775 rs772057472	519	H>L		No	ClinGen ExAC TOPMed gnomAD
rs772057472 CA295693171	519	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1167186632 CA401819088	520	C>*		No	ClinGen gnomAD
TCGA novel	521	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401819078 rs1239231130	522	P>S		No	ClinGen gnomAD
CA8877771 rs753344299	523	T>A		No	ClinGen ExAC gnomAD
TCGA novel	523	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753344299 CA401819073	523	T>S		No	ClinGen ExAC gnomAD
rs199822438 CA295693152	525	P>L		No	ClinGen gnomAD
CA401819053 rs1456672482	526	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1456672482 CA401819055	526	T>K		No	ClinGen gnomAD
CA401819042 rs1490080766	528	L>F		No	ClinGen TOPMed
rs150384501 CA8877769	529	R>C	Variant assessed as Somatic; 9.268e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8877768 rs535925015	529	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401819035 rs535925015	529	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8877767 rs764431403	530	R>K		No	ClinGen ExAC gnomAD
rs763247088 CA401819022	531	R>S		No	ClinGen ExAC TOPMed gnomAD
CA401819025 rs1448130298	531	R>T		No	ClinGen TOPMed
CA295693144 rs148074485	532	C>Y		No	ClinGen ESP TOPMed gnomAD
rs1331701673 CA401819009	533	K>N		No	ClinGen gnomAD
rs753008817 CA8877765	533	K>R		No	ClinGen ExAC TOPMed gnomAD
rs765736013 CA8877764	534	E>Q		No	ClinGen ExAC gnomAD
CA8877763 rs759982893	535	N>D		No	ClinGen ExAC gnomAD
rs776750033 CA8877762	535	N>I		No	ClinGen ExAC gnomAD
CA401818996 rs1384906862	535	N>K		No	ClinGen TOPMed
rs1222073539 CA401818992	536	D>Y		No	ClinGen TOPMed gnomAD
rs375525801 CA8877761	537	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	538	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	539	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773624800 CA8877759	541	G>D		No	ClinGen ExAC gnomAD
rs372345879 CA8877760	541	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772432794 CA8877758	543	E>*		No	ClinGen ExAC gnomAD
rs369688255 COSM1710944 CA8877757	544	P>L	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1438092664 CA401818940	544	P>S		No	ClinGen gnomAD
CA401818931 rs1453812770	545	S>F		No	ClinGen gnomAD
CA401818921 rs1598654650	547	A>S		No	ClinGen Ensembl
CA401818905 rs1598654508	549	H>P		No	ClinGen Ensembl
rs1288420397 CA401818907	549	H>Y		No	ClinGen gnomAD
CA401818891 rs1450234553	551	P>L		No	ClinGen gnomAD
CA401818877 rs1166256792	553	E>D		No	ClinGen Ensembl
CA8877754 rs749227489	554	P>L		No	ClinGen ExAC gnomAD
rs768620034 CA8877755	554	P>S		No	ClinGen ExAC TOPMed gnomAD
VAR_048353 rs9966357 COSM3692148 CA8877752	555	A>T	thyroid large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8877751 rs745397874	556	L>S		No	ClinGen ExAC gnomAD
rs1242135727 CA401818861	557	D>N		No	ClinGen TOPMed
CA401818858 rs1278700547	557	D>V		No	ClinGen gnomAD
rs1436987158 CA401818852	558	S>P		No	ClinGen gnomAD
CA8877750 rs780756917	559	D>H		No	ClinGen ExAC gnomAD
CA401818838 rs1301148647	560	G>S		No	ClinGen gnomAD
TCGA novel	561	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401818832 rs1423951529	561	P>Q		No	ClinGen gnomAD
CA295693091 rs765361578	561	P>S		No	ClinGen TOPMed
rs765570304 CA8877747	562	G>E		No	ClinGen ExAC gnomAD
rs539490874 COSM363785 COSM320137 CA8877748	562	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs755477005 CA401818819	563	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1568060703 CA401818817	564	P>A		No	ClinGen Ensembl
TCGA novel	565	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877744 rs766551459	568	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1192127625 CA401818793	568	D>N		No	ClinGen gnomAD
CA401818789 rs766551459	568	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1019070520 CA295693060	570	D>Y		No	ClinGen TOPMed gnomAD
CA8877742 rs375555518	571	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401818770 rs375555518	571	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401818764 rs1461592162	572	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA401818766 rs1461592162	572	A>T		No	ClinGen Ensembl
CA8877741 VAR_048354 rs8082898	575	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401818729 rs762178251	577	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs762178251 CA8877740	577	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1400641976 CA401818710	579	T>I		No	ClinGen TOPMed gnomAD
rs138184132 CA8877739	580	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs768404272 CA8877738	581	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	585	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745342533 CA8877734	586	F>L		No	ClinGen ExAC gnomAD
rs750553653 CA295693020	590	L>S		No	ClinGen Ensembl
rs147018763 CA8877733	591	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756880758 CA8877732	592	L>F		No	ClinGen ExAC gnomAD
rs1378114067 CA401818627	593	P>S		No	ClinGen TOPMed
CA8877731 rs746680748	597	P>L		No	ClinGen ExAC gnomAD
rs1308617532 CA401818592	598	S>C		No	ClinGen TOPMed
CA401818576 rs1568059965	601	D>A		No	ClinGen Ensembl
CA401818567 rs1465066855	602	D>G		No	ClinGen TOPMed gnomAD
rs1427577460 CA401818570	602	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401818563 rs1054956720	603	D>N		No	ClinGen TOPMed gnomAD
CA295692971 rs1054956720	603	D>Y		No	ClinGen TOPMed gnomAD
rs868864994 CA295692967	604	G>E		No	ClinGen Ensembl
CA401818546 rs1255791939	605	Y>F		No	ClinGen TOPMed
CA401818533 rs1484643463	607	S>C		No	ClinGen gnomAD
CA8877726 rs529981219	610	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8877727 rs529981219	610	N>T		No	ClinGen ExAC TOPMed gnomAD
CA295692950 rs1051165485	614	T>I		No	ClinGen Ensembl
CA401818491 rs1598650756	614	T>P		No	ClinGen Ensembl
rs1598650602 CA401818482	615	N>T		No	ClinGen Ensembl
CA8877724 rs762092790	616	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8877723 rs762092790	616	L>I		No	ClinGen ExAC TOPMed gnomAD
CA295692940 rs762092790	616	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	622	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295692918 rs950152813	622	Q>K		No	ClinGen TOPMed
CA401818423 rs1598650282	624	Y>S		No	ClinGen Ensembl
COSM3783154 CA8877720 rs141321874	626	P>L	Variant assessed as Somatic; 0.001017 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA401818401 rs1314452945	627	I>M		No	ClinGen TOPMed gnomAD
CA401818406 rs1450416324	627	I>V		No	ClinGen gnomAD
CA8877718 rs150101312	628	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs150101312 CA8877719	628	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745854933 CA8877717	628	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401818400 rs150101312	628	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA295692867 rs983067488	629	S>L		No	ClinGen Ensembl
CA8877716 rs548784436	630	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs548784436 CA401818388	630	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	631	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428470228 CA401818379	632	L>F		No	ClinGen gnomAD
CA8877714 rs746659318	637	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1240952978 CA401818342	638	F>L		No	ClinGen gnomAD
rs777230071 CA8877713	639	I>L		No	ClinGen ExAC gnomAD
CA401818329 rs1207148217	639	I>M		No	ClinGen TOPMed
CA401818327 rs1252220656	640	F>I		No	ClinGen TOPMed
rs771758610 CA401818311	642	F>L		No	ClinGen ExAC gnomAD
rs771758610 CA8877712	642	F>V		No	ClinGen ExAC gnomAD
CA295692838 rs969076633	647	S>F		No	ClinGen Ensembl
CA401818274 rs1482881054	647	S>T		No	ClinGen TOPMed
rs1203227281 CA401818253	648	F>S		No	ClinGen TOPMed
CA8877706 rs757229978	650	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8877705 rs757229978	650	V>G		No	ClinGen ExAC TOPMed gnomAD
rs751664919 CA8877704	651	P>S		No	ClinGen ExAC gnomAD
rs201249884 CA8877702	653	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8877701 rs201249884 COSM1324549	653	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765056012 CA401818182	654	L>I		No	ClinGen ExAC TOPMed gnomAD
rs765056012 CA8877700	654	L>V		No	ClinGen ExAC TOPMed gnomAD
CA295692801 rs150922981	655	T>N		No	ClinGen ESP TOPMed
CA401818175 rs1428728779	655	T>P		No	ClinGen TOPMed
CA295692794 rs144002108	656	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877699 rs144002108	656	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182536824 CA401818133	658	F>V		No	ClinGen gnomAD
CA401818117 rs1568058333	659	P>L		No	ClinGen Ensembl
CA295692789 rs139124528	661	A>T		No	ClinGen ESP
CA401818069 rs1404967376	664	L>F		No	ClinGen TOPMed
rs1263338601 CA401818036	666	Y>H		No	ClinGen gnomAD
CA401818030 rs1439944194	666	Y>S		No	ClinGen gnomAD
CA401818022 rs1252353441	667	L>V		No	ClinGen gnomAD
CA295692764 rs868639549	668	E>K		No	ClinGen Ensembl
CA8877696 rs776605740	669	P>L		No	ClinGen ExAC gnomAD
CA8877695 rs770912685 COSM989066	671	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8877689 rs770342786	672	A>G		No	ClinGen ExAC gnomAD
rs780565414 CA8877691	672	A>P		No	ClinGen ExAC gnomAD
rs780565414 CA8877690	672	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1216807795 CA401817937	673	S>F		No	ClinGen TOPMed
rs781737635 CA8877687	674	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1391239130 CA401817908	675	S>R		No	ClinGen TOPMed gnomAD
CA8877686 COSM1166326 rs371099425	676	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1568057807 CA401817895	676	A>V		No	ClinGen Ensembl
rs1162409930 CA401817865	679	D>G		No	ClinGen gnomAD
TCGA novel	680	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000970334 COSM1235507 CA8877685 rs140386239	680	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8877684 rs777958730	681	D>N		No	ClinGen ExAC TOPMed gnomAD
rs758517478 CA8877683	682	P>L		No	ClinGen ExAC gnomAD
rs893718321 CA295692671	682	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA295692661 rs532834103	683	S>N		No	ClinGen 1000Genomes
rs765000990 CA8877681	684	D>G		No	ClinGen ExAC gnomAD
rs759267754 CA8877680	685	S>R		No	ClinGen ExAC gnomAD
rs867440484 CA295692630	686	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	687	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877654 rs763791646	690	T>I		No	ClinGen ExAC gnomAD
CA401816568 rs1356692232	691	D>N		No	ClinGen TOPMed
CA401816560 rs1241677277	692	S>G		No	ClinGen TOPMed
rs143942399 CA8877652	694	R>C	Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375743953 CA8877651	694	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375743953 CA401816541	694	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM473924 rs373780287 CA8877650	695	T>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8877648 rs772572197	696	D>N		No	ClinGen ExAC
CA8877647 rs748182717	697	T>A		No	ClinGen ExAC gnomAD
rs201553363 CA8877645	698	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61731697 CA401816507	700	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8877642 rs61731698 COSM280820	700	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1338064574 CA401816505	701	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8877640 rs767452648	703	T>A		No	ClinGen ExAC TOPMed gnomAD
CA401816489 rs1226138217	703	T>N		No	ClinGen TOPMed gnomAD
CA401816491 rs767452648	703	T>P		No	ClinGen ExAC TOPMed gnomAD
CA401816486 rs751092742	704	T>A		No	ClinGen ExAC gnomAD
rs763738775 CA8877637	704	T>I		No	ClinGen ExAC gnomAD
CA8877638 rs751092742	704	T>P		No	ClinGen ExAC gnomAD
CA8877635 COSM1389262 rs535892749	705	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs908022609 CA295689199	705	A>V		No	ClinGen TOPMed
rs983672528	707	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	708	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877621 rs149578114	708	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs570754096 CA295687934	709	D>H		No	ClinGen Ensembl
rs1468867690 CA401816437	710	Q>K		No	ClinGen gnomAD
rs751614866 CA8877618	711	E>Q		No	ClinGen ExAC gnomAD
CA401816411 rs1200138443	713	D>V		No	ClinGen gnomAD
TCGA novel	715	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877617 COSM473923 rs777406986	718	A>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8877586 rs765301979	721	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	722	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401816309 rs1429648240	726	D>G		No	ClinGen gnomAD
rs1419552244 CA401816300	727	D>V		No	ClinGen gnomAD
CA401816294 rs1187801883	728	L>P		No	ClinGen gnomAD
rs1203912524 CA401816258	733	T>A		No	ClinGen gnomAD
TCGA novel	733	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249736999 CA401816255	733	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401816252 rs1182881300	734	N>D		No	ClinGen TOPMed gnomAD
CA401816251 rs1182881300	734	N>Y		No	ClinGen TOPMed gnomAD
CA8877582 rs576670651	736	S>N		No	ClinGen ExAC TOPMed gnomAD
CA401816225 rs772020394	737	E>D		No	ClinGen ExAC gnomAD
CA401816231 rs1308048815 COSM1389259	737	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1212944064 CA401816218	739	K>E		No	ClinGen gnomAD
TCGA novel	741	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598526341 CA401816202	741	T>P		No	ClinGen Ensembl
CA401816194 rs1454793235	742	F>S		No	ClinGen gnomAD
rs778479695 CA8877578	742	F>V		No	ClinGen ExAC gnomAD
CA8877577 rs533817943	745	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA401816174 rs1598526177	745	T>P		No	ClinGen Ensembl
CA295687438 rs75643723	746	S>*		No	ClinGen Ensembl
TCGA novel	746	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336516679 CA401816164	747	T>A		No	ClinGen gnomAD
rs1336516679 CA401816165	747	T>P		No	ClinGen gnomAD
rs568064312 CA8877576	748	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs568064312 CA401816155	748	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8877574 rs140941017	751	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140941017 CA401816140 CA295687422	751	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8877573 rs139317911 COSM70616	752	T>M	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA401816103 rs1293929028	756	E>A		No	ClinGen TOPMed
rs764406675 CA8877572 COSM334093	756	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8877571 rs758939466	759	L>F		No	ClinGen ExAC gnomAD
CA401816079 rs1181117662 COSM473922	760	S>T	kidney Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8877569 rs765789121	760	S>Y		No	ClinGen ExAC gnomAD
CA401816063 rs1202360277	762	S>F		No	ClinGen gnomAD
rs776880828 CA8877567	763	P>L		No	ClinGen ExAC gnomAD
TCGA novel	764	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142982382 CA8877564	764	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877563 rs771825571	765	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8877562 rs748100641	767	A>T		No	ClinGen ExAC gnomAD
rs558098862 COSM273638 CA8877560	768	A>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3783152 COSM3783153 CA8877559 rs558098862	768	A>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8877558 rs779592640	770	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	771	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323342156 CA401816009	772	D>A		No	ClinGen gnomAD
CA8877556 rs745587598	773	A>D		No	ClinGen ExAC gnomAD
CA401815991 rs1426142622	775	M>L		No	ClinGen gnomAD
rs1426142622 CA401815993	775	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs971731136 CA295687372	776	I>M		No	ClinGen TOPMed gnomAD
CA8877555 COSM1205397 rs778187808	777	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA295687368 rs1003792599	779	L>P		No	ClinGen TOPMed
CA8877554 rs139078158	781	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	783	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753109091 CA8877553	783	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1160677748 CA401815941	783	E>K		No	ClinGen TOPMed
rs1598429785 CA401815919	784	T>A		No	ClinGen Ensembl
CA401815913 rs1226274031	785	K>E		No	ClinGen gnomAD
rs147008674 CA8877515	786	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746714732 CA8877514	787	S>F		No	ClinGen ExAC gnomAD
rs968645305 CA295683778	789	G>A		No	ClinGen Ensembl
rs779136262 CA8877513	790	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1307479681 CA401815872	791	K>M		No	ClinGen gnomAD
rs769197663 CA8877512	791	K>N		No	ClinGen ExAC gnomAD
rs1307479681 CA401815873	791	K>R		No	ClinGen gnomAD
rs1415661230 CA401815855	793	M>I		No	ClinGen TOPMed
CA401815859 rs1598429398	793	M>T		No	ClinGen Ensembl
rs1382093445 CA401815862	793	M>V		No	ClinGen TOPMed
CA401815850 rs1367534477	794	D>G		No	ClinGen gnomAD
rs749681778 CA8877511	799	F>S		No	ClinGen ExAC TOPMed gnomAD
CA401815810 rs1405023207	800	S>G		No	ClinGen gnomAD
CA8877510 rs528813862	801	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	803	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745916851 CA8877508	805	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1303780 CA8877507 rs781377051	806	R>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8877506 COSM3422239 rs771881652 COSM3422240	806	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751866868 CA8877505	807	K>R		No	ClinGen ExAC
TCGA novel	807	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	810	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401815660 rs1218869838	812	I>L		No	ClinGen gnomAD
CA401815647 rs764315053	813	G>*		No	ClinGen ExAC gnomAD
rs764315053 CA8877504	813	G>R		No	ClinGen ExAC gnomAD
CA8877503 rs758123868	813	G>V		No	ClinGen ExAC gnomAD
CA8877502 rs752522968	814	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8877501 rs765109038	814	G>V		No	ClinGen ExAC gnomAD
rs202241333 CA8877499	815	V>F		No	ClinGen ExAC TOPMed gnomAD
CA401815627 rs202241333	815	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8877498 rs142893326	816	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771853054 CA8877496	818	T>A		No	ClinGen ExAC TOPMed gnomAD
rs771853054 CA8877495	818	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	821	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	823	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401815398 rs1349274052	826	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8877474 rs770256281	828	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8877473 rs746231466	829	K>T		No	ClinGen ExAC TOPMed gnomAD
rs771374021 CA8877471	830	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs996237680 CA295683722	831	E>G		No	ClinGen gnomAD
RCV000970333 rs116459026 CA8877468	832	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8877467 rs748435967	833	S>G		No	ClinGen ExAC gnomAD
CA8877466 rs778665141	834	G>E		No	ClinGen ExAC TOPMed gnomAD
CA401815264 rs1172989013	835	I>M		No	ClinGen TOPMed
CA8877465 rs754740045	835	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8877464 rs143141379 COSM1130060	837	T>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA401815218 rs1598422513	838	E>D		No	ClinGen Ensembl
rs1420278817 CA401815222	838	E>G		No	ClinGen TOPMed gnomAD
CA8877462 rs61736460	839	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151294672 CA8877460	841	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs568089397 CA401815175	842	H>P		No	ClinGen Ensembl
CA401815169 rs1567971100	842	H>Q		No	ClinGen Ensembl
CA295683719 rs568089397	842	H>R		No	ClinGen Ensembl
rs1003134008 CA295683720	842	H>Y		No	ClinGen Ensembl
rs578168816 CA295683718	843	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA8877458 rs578168816	843	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs377637300 CA8877459	843	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1033282821 CA401815151	844	L>P		No	ClinGen TOPMed
rs1033282821 CA295683717	844	L>R		No	ClinGen TOPMed
CA8877456 rs140230336	845	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs541462237 CA295683716	846	L>F		No	ClinGen 1000Genomes
CA8877454 rs771444130	846	L>R		No	ClinGen ExAC gnomAD
CA8877453 rs761207710	847	S>C		No	ClinGen ExAC gnomAD
CA401815030 rs1292685812	853	Q>P		No	ClinGen gnomAD
rs748240052 CA8877450 COSM417816	854	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs146680155 CA8877449	855	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs756117638 CA8877445	856	V>A		No	ClinGen ExAC gnomAD
rs779756258 CA8877446	856	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8877442 rs200113280	858	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200113280 CA8877441	858	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762564050 CA8877439	859	E>D		No	ClinGen ExAC gnomAD
TCGA novel	859	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs8096452 CA8877440 VAR_048355 RCV000957704	859	E>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs536737944 CA8877438	860	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1191825244 CA401814964	860	E>K		No	ClinGen TOPMed
CA401814955 rs761154244	861	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761154244 CA8877436	861	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8877437 rs139997557	861	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368913981 CA8877434	862	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8877433 rs200869858	862	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA401814951 rs200869858	862	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	864	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200823240 CA8877432	865	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	865	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375861416 CA8877431	866	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877430 rs749541572	866	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8877427 rs142911764	867	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877428 rs142911764	867	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8877426 rs148568579	868	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401814914 rs1388132249	869	D>G		No	ClinGen gnomAD
CA295683714 rs147480786	869	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs147480786 CA8877424	869	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388202221 CA401814899	871	S>F		No	ClinGen gnomAD
rs1292723398 CA401814897	872	Y>N		No	ClinGen gnomAD
rs758061983 CA8877423	873	S>L		No	ClinGen ExAC TOPMed gnomAD
rs758061983 CA8877422	873	S>W		No	ClinGen ExAC TOPMed gnomAD
rs750816947 CA8877419	874	A>E		No	ClinGen ExAC TOPMed gnomAD
rs750816947 CA8877418	874	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8877415 rs762354755	876	D>E		No	ClinGen ExAC gnomAD
rs1201152808 CA401814869	877	S>R		No	ClinGen gnomAD
rs140662824 CA8877413	878	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1252250033 CA401814855	879	D>H		No	ClinGen Ensembl
CA8877411 rs775509273	880	A>S		No	ClinGen ExAC gnomAD
rs549623795 CA8877410	881	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs752271497 CA295683713	883	Q>P		No	ClinGen TOPMed gnomAD
CA401814828 rs752271497	883	Q>R		No	ClinGen TOPMed gnomAD
CA401814822 rs1256064063	884	P>R		No	ClinGen gnomAD
rs745613333 CA8877409	884	P>S		No	ClinGen ExAC gnomAD
CA8877407 rs147247153	885	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401814817 rs1598419960	885	A>V		No	ClinGen Ensembl
rs375162726 CA295683712	887	T>A		No	ClinGen ESP TOPMed
TCGA novel	888	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	888	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300090417 CA401814794	889	I>F		No	ClinGen gnomAD
rs1382455128 CA401814767	893	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8877406 rs746983484	894	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401814759 rs746983484	894	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401814749 rs1318338451	895	S>F		No	ClinGen gnomAD
CA8877404 rs142853345 COSM1630612	898	T>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8877405 rs142853345	898	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8877400 rs750763617	900	G>W		No	ClinGen ExAC gnomAD
rs372013672 CA8877398	904	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	905	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA295683710 rs367962784	906	G>E		No	ClinGen ESP TOPMed
CA401814683 rs1598419441	906	G>R		No	ClinGen Ensembl
CA401814673 rs1351571309	907	E>V		No	ClinGen TOPMed
rs759047959 CA8877396	910	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1435742555 CA401814652	910	A>V		No	ClinGen gnomAD
rs775666304 CA8877394	911	K>N		No	ClinGen ExAC gnomAD
rs1258787985 CA401814639	912	A>V		No	ClinGen gnomAD
rs533462490 CA8877393	913	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325482533 CA401814608	917	E>G		No	ClinGen gnomAD
rs1598418992 CA401814611	917	E>K		No	ClinGen Ensembl
CA8877390 rs372185496	920	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA401814590 rs1228640954	920	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA295683707 rs372185496 COSM989059	920	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8877388 rs772077627	921	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8877387 rs772077627	921	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1365174194 CA401814577	922	A>V		No	ClinGen TOPMed
CA401814571 rs1470262975	923	S>F		No	ClinGen TOPMed
rs146075320 RCV000970332 CA8877385	924	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371240117 CA8877384	924	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401814568 rs371240117	924	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA401814557 rs1337695683	926	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1337695683 CA401814558	926	R>G		No	ClinGen gnomAD
rs749000237 CA401814555	926	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749000237 CA8877382	926	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751985569 CA8877379	929	E>D		No	ClinGen ExAC gnomAD
TCGA novel	930	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471068537 CA401814520	931	S>N		No	ClinGen TOPMed gnomAD
CA401814500 rs1239600975	934	I>T		No	ClinGen gnomAD
CA8877376 rs752797363	935	H>R		No	ClinGen ExAC gnomAD
CA8877377 rs758996569	935	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8877375 rs200496501	936	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	939	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759817027 CA8877374	942	Q>H		No	ClinGen ExAC gnomAD
CA401814449 rs1271968787	942	Q>K		No	ClinGen gnomAD
CA401814445 rs1227242718	942	Q>R		No	ClinGen TOPMed gnomAD
rs1567966618	943	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	944	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877372 rs150175125	947	E>D		No	ClinGen ESP ExAC gnomAD
rs1436444755 CA401814390	948	S>Y		No	ClinGen TOPMed
rs61735459 CA8877356	950	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61735459 CA8877357	950	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401814373 rs1288840928	951	V>A		No	ClinGen gnomAD
rs755038593 CA8877354 COSM989058	953	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs755038593 CA401814359	953	T>R		No	ClinGen ExAC TOPMed gnomAD
rs988239687 CA295683620	959	G>D		No	ClinGen TOPMed
CA401814319 rs1351893710	959	G>S		No	ClinGen TOPMed gnomAD
rs1598410721 CA401814307	961	V>I		No	ClinGen Ensembl
CA295683619 rs956341043	963	P>A		No	ClinGen TOPMed
CA8877350 rs750152997	963	P>L		No	ClinGen ExAC TOPMed gnomAD
CA295683617 rs570185440	965	G>R		No	ClinGen gnomAD
rs1409101190 CA401814278	966	V>G		No	ClinGen TOPMed gnomAD
rs571003872 CA295683616	966	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8877348 rs571003872	966	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA295683615 rs1016758548	968	L>I		No	ClinGen TOPMed gnomAD
TCGA novel	970	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248030415 CA401814256	970	I>V		No	ClinGen TOPMed gnomAD
rs1196317593 CA401814247	971	S>C		No	ClinGen gnomAD
TCGA novel	971	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401814241 rs79592897	972	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8877346 rs79592897	972	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401814235 rs1210474794	973	K>R		No	ClinGen gnomAD
CA295683614 rs887015258	974	E>A		No	ClinGen Ensembl
CA401814226 rs1327054465	974	E>D		No	ClinGen TOPMed gnomAD
CA8877344 rs775033833	979	H>N		No	ClinGen ExAC gnomAD
TCGA novel	980	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8877341 rs371591392	981	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA401814163 rs1273252596	984	T>I		No	ClinGen TOPMed gnomAD
CA401814158 rs1347290153	985	I>F		No	ClinGen gnomAD
rs1347290153 CA401814159	985	I>V		No	ClinGen gnomAD
rs1157621999 CA401814143	987	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs138017302 CA8877339 COSM1389254 COSM3821594	989	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA401814094 rs145834920	993	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8877312 rs145834920 COSM1180192	993	D>N	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8877313 rs145834920	993	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144613208 CA8877310	997	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1012123253 CA401814070 COSM709332	997	D>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1012123253 CA295683550	997	D>Y		No	ClinGen TOPMed
rs1276972401 CA401814064	998	L>V		No	ClinGen gnomAD
CA8877309 rs748976507	999	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1001	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3355995 CA8877306 rs758321771 COSM989056	1002	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1003	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420941144 CA401814027	1004	M>K		No	ClinGen TOPMed
CA401814018 rs1567958595	1005	S>N		No	ClinGen Ensembl
CA8877304 rs765087190	1008	T>A		No	ClinGen ExAC gnomAD
rs1300561636 CA401813995	1008	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1418880435 CA401813991	1009	I>N		No	ClinGen TOPMed
rs1309416955 CA401813979	1011	S>A		No	ClinGen gnomAD
CA401813967 rs1598404068	1013	T>P		No	ClinGen Ensembl
rs1213634442 CA401813956	1014	T>I		No	ClinGen TOPMed gnomAD
CA8877301 rs766104072	1015	S>G		No	ClinGen ExAC TOPMed gnomAD
rs918389975 CA295683547	1015	S>R		No	ClinGen TOPMed gnomAD
rs760444006 CA8877300	1018	T>N		No	ClinGen ExAC gnomAD
rs1567958145 CA401813931	1019	T>A		No	ClinGen Ensembl
CA8877299 rs527461275	1020	T>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8877298 rs527461275 COSM989054	1020	T>M	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA401813923 rs527461275	1020	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA401813919 rs1187155965	1021	H>L		No	ClinGen gnomAD
CA401813913 rs1310640322	1022	I>V		No	ClinGen TOPMed
rs745939800 CA8877294	1024	K>E		No	ClinGen ExAC TOPMed gnomAD
CA401813873 rs1278805379	1026	V>M		No	ClinGen TOPMed
rs747949084 CA8877269	1028	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1390826799 CA401813855	1029	G>S		No	ClinGen gnomAD
CA401813850 rs1156862058	1029	G>V		No	ClinGen gnomAD
TCGA novel	1034	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401813820 rs1181198672	1034	R>K		No	ClinGen TOPMed
CA295683505 rs150071835	1035	I>T		No	ClinGen ESP
CA401813790 rs754937234	1038	R>L		No	ClinGen ExAC gnomAD
CA8877267 rs754937234	1038	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8877266 rs140548684	1041	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147930423 COSM1480389 CA8877265	1042	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA295683504 rs967743121	1047	I>F		No	ClinGen TOPMed
rs368752856 CA8877263	1047	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767256031 CA8877262	1049	H>N		No	ClinGen ExAC gnomAD
CA295683503 rs1802388	1049	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA401813721 rs1598398950	1049	H>R		No	ClinGen Ensembl
CA401813712 rs1246667840	1050	D>E		No	ClinGen gnomAD
CA295683502 rs1020291039	1051	Q>H		No	ClinGen Ensembl
CA8877235 rs767551000	1052	A>T		No	ClinGen ExAC gnomAD
CA8877234 rs761964315	1052	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1473912557 CA401813683	1054	A>P		No	ClinGen TOPMed gnomAD
rs1473912557 CA401813681	1054	A>S		No	ClinGen TOPMed gnomAD
CA8877231 rs201592629	1055	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1205575308 CA401813651	1058	K>N		No	ClinGen TOPMed gnomAD
CA401813640 rs775465251	1060	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775465251 CA8877230	1060	A>T		No	ClinGen ExAC TOPMed gnomAD
rs190875358 CA295683481	1065	P>H		No	ClinGen 1000Genomes
CA401813585 rs1265305117	1067	M>I		No	ClinGen TOPMed
rs1246184069 CA401813591	1067	M>L		No	ClinGen TOPMed
rs1246184069 CA401813590	1067	M>V		No	ClinGen TOPMed
CA401813580 rs1293905362	1068	S>A		No	ClinGen gnomAD
rs778843417 CA295683480	1069	V>M		No	ClinGen Ensembl
rs1357829287 CA401813569	1070	T>S		No	ClinGen TOPMed
rs1167609771 CA401813553	1072	V>A		No	ClinGen Ensembl
rs769851322 CA8877228	1072	V>L		No	ClinGen ExAC gnomAD
rs781206421 CA8877227	1073	V>L		No	ClinGen ExAC gnomAD
CA8877226 rs781206421	1073	V>M		No	ClinGen ExAC gnomAD
rs1231409113 CA401813539	1075	H>Y		No	ClinGen gnomAD
CA401813500 rs1289116363	1080	I>T		No	ClinGen TOPMed gnomAD
CA401813495 rs1411880414	1081	T>S		No	ClinGen gnomAD
CA8877223 rs777246251	1083	E>K		No	ClinGen ExAC gnomAD
rs1598395088 CA401813470	1084	D>E		No	ClinGen Ensembl
rs1328445643 CA401813464	1085	G>E		No	ClinGen gnomAD
rs780460761 CA8877220	1086	E>*		No	ClinGen ExAC TOPMed gnomAD
rs780460761 CA8877221	1086	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8877222 rs780460761	1086	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8877217 rs140830660	1087	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs199616331 CA8877219	1087	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8877216 rs761758415	1088	D>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9Y2J2

11 regional properties for Q9Y2J2

Type	Name	Position	InterPro Accession
domain	FERM domain	110 - 391	IPR000299
domain	SAB domain	719 - 765	IPR007477
domain	Band 4.1, C-terminal	973 - 1079	IPR008379
domain	FERM adjacent	397 - 443	IPR014847
domain	FERM, N-terminal	114 - 176	IPR018979
domain	FERM, C-terminal PH-like domain	305 - 395	IPR018980
conserved_site	FERM conserved site	164 - 192	IPR019747-1
conserved_site	FERM conserved site	271 - 300	IPR019747-2
domain	FERM central domain	194 - 301	IPR019748
domain	Band 4.1 domain	106 - 301	IPR019749
domain	Band 4.1-like protein 3, FERM domain, F1 sub-domain	109 - 192	IPR030691

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cell junction Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm	Detected in the cytoplasm of actively dividing cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
juxtaparanode region of axon	A region of an axon near a node of Ranvier that is between the paranode and internode regions.
paranode region of axon	An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
cytoskeletal protein-membrane anchor activity	The binding activity of a molecule that brings together a cytoskeletal protein or protein complex and a plasma membrane lipid or membrane-associated protein, in order to maintain the localization of the cytoskeleton at a specific cortical membrane location.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

12 GO annotations of biological process

Name	Definition
actomyosin structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
cortical cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
myelin maintenance	The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
paranodal junction assembly	Formation of the junction between an axon and the glial cell that forms the myelin sheath. Paranodal junctions form at each paranode, i.e. at the ends of the unmyelinated nodes of Ranvier.
protein localization to juxtaparanode region of axon	Any process in which a protein is transported to, or maintained at, the juxtaparanode region of an axon.
protein localization to paranode region of axon	A cellular protein localization process in which a protein is transported to, or maintained at, the paranode region of an axon.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell shape	Any process that modulates the surface configuration of a cell.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9N179	EPB41	Protein 4.1	Bos taurus (Bovine)	PR
Q9HCM4	EPB41L5	Band 4.1-like protein 5	Homo sapiens (Human)	PR
Q9HCS5	EPB41L4A	Band 4.1-like protein 4A	Homo sapiens (Human)	PR
Q7Z6J6	FRMD5	FERM domain-containing protein 5	Homo sapiens (Human)	PR
A2A2Y4	FRMD3	FERM domain-containing protein 3	Homo sapiens (Human)	PR
O43491	EPB41L2	Band 4.1-like protein 2	Homo sapiens (Human)	PR
Q9H4G0	EPB41L1	Band 4.1-like protein 1	Homo sapiens (Human)	PR
P11171	EPB41	Protein 4.1	Homo sapiens (Human)	PR
Q9Z2H5	Epb41l1	Band 4.1-like protein 1	Mus musculus (Mouse)	PR
P48193	Epb41	Protein 4.1	Mus musculus (Mouse)	PR
O70318	Epb41l2	Band 4.1-like protein 2	Mus musculus (Mouse)	PR
Q9WV92	Epb41l3	Band 4.1-like protein 3	Mus musculus (Mouse)	PR
Q9WTP0	Epb41l1	Band 4.1-like protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTTESGSDSE	SKPDQEAEPQ	EAAGAQGRAG	APVPEPPKEE	QQQALEQFAA	AAAHSTPVRR
70	80	90	100	110	120
EVTDKEQEFA	ARAAKQLEYQ	QLEDDKLSQK	SSSSKLSRSP	LKIVKKPKSM	QCKVILLDGS
130	140	150	160	170	180
EYTCDVEKRS	RGQVLFDKVC	EHLNLLEKDY	FGLTYRDAEN	QKNWLDPAKE	IKKQVRSGAW
190	200	210	220	230	240
HFSFNVKFYP	PDPAQLSEDI	TRYYLCLQLR	DDIVSGRLPC	SFVTLALLGS	YTVQSELGDY
250	260	270	280	290	300
DPDECGSDYI	SEFRFAPNHT	KELEDKVIEL	HKSHRGMTPA	EAEMHFLENA	KKLSMYGVDL
310	320	330	340	350	360
HHAKDSEGVE	IMLGVCASGL	LIYRDRLRIN	RFAWPKVLKI	SYKRNNFYIK	IRPGEFEQFE
370	380	390	400	410	420
STIGFKLPNH	RAAKRLWKVC	VEHHTFFRLL	LPEAPPKKFL	TLGSKFRYSG	RTQAQTRRAS
430	440	450	460	470	480
ALIDRPAPYF	ERSSSKRYTM	SRSLDGEVGT	GQYATTKGIS	QTNLITTVTP	EKKAEEERDE
490	500	510	520	530	540
EEDKRRKGEE	VTPISAIRHE	GKSPGLGTDS	CPLSPPSTHC	APTSPTELRR	RCKENDCKLP
550	560	570	580	590	600
GYEPSRAEHL	PGEPALDSDG	PGRPYLGDQD	VAFSYRQQTG	KGTTLFSFSL	QLPESFPSLL
610	620	630	640	650	660
DDDGYLSFPN	LSETNLLPQS	LQHYLPIRSP	SLVPCFLFIF	FFLLSASFSV	PYALTLSFPL
670	680	690	700	710	720
ALCLCYLEPK	AASLSASLDN	DPSDSSEEET	DSERTDTAAD	GETTATESDQ	EEDAELKAQE
730	740	750	760	770	780
LEKTQDDLMK	HQTNISELKR	TFLETSTDTA	VTNEWEKRLS	TSPVRLAARQ	EDAPMIEPLV
790	800	810	820	830	840
PEETKQSSGE	KLMDGSEIFS	LLESARKPTE	FIGGVTSTSQ	SWVQKMETKT	ESSGIETEPT
850	860	870	880	890	900
VHHLPLSTEK	VVQETVLVEE	RRVVHASGDA	SYSAGDSGDA	AAQPAFTGIK	GKEGSALTEG
910	920	930	940	950	960
AKEEGGEEVA	KAVLEQEETA	AASRERQEEQ	SAAIHISETL	EQKPHFESST	VKTETISFGS
970	980	990	1000	1010	1020
VSPGGVKLEI	STKEVPVVHT	ETKTITYESS	QVDPGTDLEP	GVLMSAQTIT	SETTSTTTTT
1030	1040	1050	1060	1070	1080
HITKTVKGGI	SETRIEKRIV	ITGDADIDHD	QALAQAIKEA	KEQHPDMSVT	KVVVHKETEI

TPEDGED